Pigment-vascular phacomatosis Q85.8

Very rare (about 250 cases have been described), combination of an extensive vascular nevus with an extensive melanocytic nevus, in which the common occurrence is not a coincidence but an entity.

• Type I: Nevus flammeus combined with Nevus pigmentosus verrucosus
• Type II: Nevus flammeus combined with mongol stain (dermal melanocytosis)
• Type III: Nevus flammeus combined with Nevus spilus
• Type IV: Nevus flammeus combined with Nevus spilus and Mongolian stain, possibly also Nevus anaemicus.

In types II, III and IV a naevus anaemicus may be associated. A further classification of the individual types according to a) and b) is made depending on whether a) exclusively cutaneous or b) also additional systemic involvement, e.g. dysplasia of larger vessels (e.g. V. cava), is present.

Genodermatosis with sporadic occurrence. It was assumed that this phacomatosis is based on a nonallelic didymosis ( twin spotting). However, it has been shown that in another form of twin spotting(phacomatosis pigmentokeratotica) a somatic HRAS mutation in an early progenitor cell leads to a differentiation of different tissue types.

Not recommended

1. Fischer K (2015) Phacomatosis pigmentovascularis. JDDG 13: 1178-1179
2. Happle R, Steijlen PM (1989) Phacomatosis pigmentovascularis interpreted as a phenomenon of twin spots. dermatologist 40: 721-724
3. Lo PY, Tzung TY (2003) Phacomatosis pigmentovascularis type IIb with a patent umbilical vein and inferior vena cava hypoplasia. Br J Dermatol 148: 836-838
4. Nimizu N et al (2015) Unusual case of phakomatosis pigmentovascularisin a Japanese female infant associated with three phakomatoses: Port-wine stain, dermal melanocytosis and cutis marmorata telangiectatica congenita. J Dermatol 42:1006-1007
5. Ota M, Kawamura T, Ito N (1947) Phacomatosis pigmentovascularis (Ota). Jpn J Dermatol 52: 1-3
6. Yang Yet al (2015) Phacomatosis Pigmentovascularis associated with Sturge-Weber Syndrome, Ota Nevus, and congenital glaucoma. Medicine (Baltimore) 94:e1025